Our Research
Welcome to the Costain Lab! Our Lab uses advanced genetic technologies to facilitate diagnosis and discovery in children with suspected undiagnosed genetic diseases. Priority research populations include children with unexplained medical complexity and severe neurological impairment, and children with genetic or unexplained epilepsy. We are also pioneering new approaches for classifying and interpreting rare genetic variation.
Selected Publications
For a complete list of Costain Lab publications, please visit PubMed.
Costain G, Liu Z, Mennella V, Radicioni G, Goczi AN, Albulescu A, Walker S, Ngan B, Manson D, Vali R, Khan M, Palaniyar N, Hill DB, Hall DA, Marshall CR, Knowles M, Zariwala MA, Kesimer M, Dell SD. Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B. Am J Respir Crit Care Med. 2022 Apr 1;205(7):761-768. doi: 10.1164/rccm.202106-1456OC. PMID: 35023825.
Costain G, Cohn RD, Scherer SW, Marshall CR. Genome sequencing as a diagnostic test. CMAJ. 2021 Oct 25;193(42):E1626-E1629. doi: 10.1503/cmaj.210549. PMID: 34697096; PMCID: PMC8562981.
Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. JAMA Netw Open. 2020 Sep 1;3(9):e2018109. doi: 10.1001/jamanetworkopen.2020.18109. PMID: 32960281; PMCID: PMC7509619.
Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Am J Med Genet A. 2021 Oct;185(10):3129-3135. doi: 10.1002/ajmg.a.62389. Epub 2021 Jun 22. PMID: 34159711.
Costain G, Cordeiro D, Matviychuk D, Mercimek-Andrews S. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. Neuroscience. 2019 Oct 15;418:291-310. doi: 10.1016/j.neuroscience.2019.08.016. Epub 2019 Sep 2. PMID: 31487502.
Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW. Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. J Neurodev Disord. 2019 Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3. PMID: 30732576; PMCID: PMC6366120.
Costain G, Ghosh MC, Maio N, Carnevale A, Si YC, Rouault TA, Yoon G. Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. Brain. 2019 May 1;142(5):1195-1202. doi: 10.1093/brain/awz072. PMID: 30915432; PMCID: PMC6487337.
Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8. PMID: 30293988.
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. PMID: 29453418; PMCID: PMC5945683.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. PMID: 28771251; PMCID: PMC5895460.
Funders
Our research would not be possible without the generous support of our funders!
Meet Our Team
Dr. Gregory Costain, MD, PhD
Dr. Costain is a physician-scientist who specializes in the diagnosis of rare genetic conditions in children. He joined the Division of Clinical and Metabolic Genetics at SickKids as a staff physician in 2020 after completing his residency training at the University of Toronto.
He runs the specialized Genetics of Epilepsy and severe Neurological Impairment Clinic (GENIC) at SickKids. He is also a Scientist-Track Investigator in the Genetics and Genome Biology program at SickKids Research Institute, and Assistant Professor at the University of Toronto.
His research program is focused on understanding the causes and consequences of rare variation in the human genome. His lab uses genome sequencing to discover new disease genes and genotype-phenotype associations, in a setting of an undiagnosed paediatric disease program.
Staff
Nicole Liang
Genetic Counsellor
Nicole Liang
Nicole is an ABGC-certified genetic counsellor who completed her genetic counselling training at the University of Toronto. She is a research genetic counsellor working with the Gene-STEPS study and also provides genetic counselling as part of the Paediatric Ehler-Danlos clinic and Epilepsy clinics at the Hospital for Sick Children. Her academic interests include advancing equitable access to genomic technologies for pediatric populations and participating in variant curation activities within ClinGen. In her spare time, she enjoys photography and powerlifting.
Bushra Haque
Bioinformatician
Bushra Haque, Bioinformatician
Bushra is a 2nd year graduate student in the Costain Lab pursuing her Master of Science degree in Molecular Genetics at the University of Toronto. Prior to this, she completed her B.Sc. in the Honours Biochemistry program at McMaster University. Her research involves leveraging widely available but previously siloed genomic databases to improve the interpretation and classification of germline missense variants. Outside of the lab, you’ll find her making science animated YouTube videos or riding her penny board around the city.
Denese Henry
Administrative Assistant
Denese Henry
Administrative Assistant
Clinical and Metabolic Genetics
The Hospital for Sick Children
555 University Ave.
Toronto, ON
M5G 1X8
Students
David Cheerie
David Cheerie
David is a 1st year graduate student in the Costain Lab pursuing a Master of Science degree at the University of Toronto’s Molecular Genetics program. Prior to this, David obtained his Bachelor of Science in Biochemistry from McMaster University. His project seeks to define clinical and molecular genetic principles that can be used for screening rare genetic diagnoses for amenability to bespoke genetic therapy development. In his free time, David enjoys bike riding and trying new food spots.
Ali Almail
Ali Almail, Medical Student
Ali is a first year medical student at the Temerty Faculty of Medicine (University of Toronto) and part of the Graduate diploma in Health Research Program. Prior to beginning his medical education, he obtained a B.A. in Genetics, Molecular, and Cellular Biology and Visual Art at Northwestern College (USA). His research interests are pretty diverse, spanning molecular genetics, phage therapy, paediatrics, and surgical developments. During his free time, he enjoys integrating science and art by creating thought-provoking drawings and paintings.
Rachel Stubits
Rachel Stubits, Summer Student
Rachel is a medical student at the Mississauga Academy of Medicine (University of Toronto). She is working with the Costain Lab to conduct a retrospective review of chromosomal microarray results from SickKids and CHEO, with the aim of assessing the utility of genome-wide sequencing as a first-tier clinical test. Before her medical education, she obtained an HBSc in Molecular Biology and Chemistry from the University of Toronto Mississauga. During her free time, she enjoys reading and hiking.
Daniel D’Souza
Daniel D'Souza, Summer Student
Daniel is an incoming Master of Engineering student at McMaster University. Prior to this, he completed the Integrated Biomedical Engineering and Health Sciences program at McMaster University. His research interests include bridging the gap between the bench top and the bedside; that is, translating what is found in research into something clinically meaningful and useful to healthcare providers and patients. Outside of research, he enjoys debating why Ariana Grande is the best artist of all time and investing in the stock market.
Alumni
Madeline Campbell
Clinical Research Project Coordinator
Madeline Campbell, Clinical Research Project Coordinator
During her time at SickKids, Madeline was involved with the Complex Care, Gene-STEPS, Rare Diseases, and SickKidsSeq (Genome Clinic) studies. Prior to joining the team, Madeline received an Honours Bachelor of Science from Cape Breton University and a Master of Science in Interdisciplinary Medical Sciences from Western University. Throughout her graduate studies, she had the opportunity to work in various research positions where she created initiatives aiming to improve the clinical care and accessibility of healthcare. Madeline is now studying at Dalhousie’s Schulich School of Law in the JD program.
Amy Pan
Amy Pan, Summer Student
Amy is working on a project to investigate the role for pharmacogenetic profiling in children with medical complexity. She is a fourth-year undergraduate student in Neuroscience and Psychology at the University of Toronto and is interested in the genetics of neurodevelopmental disorders. In the future, she hopes to pursue a career in genetic counselling.
Jade Zhang
Jade Zhang, Undergraduate Student
Jade is a fourth-year student at the University of Toronto specializing in fundamental genetics and its applications and majoring in genome biology. She hopes to pursue a career in genetics or biotechnology to help expand the accessibility of these fields. Outside of the lab, you can find Jade at New College running orientation or tucked away watching an old show and reading a new book.
George Guirguis
George Guirguis
George is a Master of Health Science candidate in the Medical Genomics program at the University of Toronto. He completed his Bachelor of Science (Honours) in Nutritional Biochemistry at Memorial University of Newfoundland. His honours project investigated the effects of exercise and post-exercise meals on the lipid profile of red blood cells. During his undergraduate studies, George developed a passion for the field of genetics wished to further pursue and apply it to advance personalized medicine. In his free time, George enjoys hiking, reading, and is a licensed pilot.
Rachel Oh
Rachel Oh
Rachel is a third year Medical Genetics and Genomics resident at the University of Toronto. She is interested in leveraging genomic technologies such as genome and RNA sequencing to improve the diagnosis and management of rare/undiagnosed genetic disorders.
Prior to residency, she completed a bachelor’s degree in Neuroscience and Molecular Biology at the University of Toronto and earned her medical degree at Queen’s University. In her spare time, she enjoys travelling and playing chess and piano.
Tayyaba Khan
Tayyaba Khan, Research Coordinator
Tayyaba worked as a Research Coordinator at the Costain Lab for two years and was primarily involved with the Complex Care Genome study, which investigates the role of whole genome sequencing in children with medical complexity. Prior to joining the team, Tayyaba received a Master of Public Health from the University of Toronto, and worked in Medical Communications where she gained experience developing scientific publications as well as research materials for clinical trials. She is now a Clinical Operations Lead at Roche.
Alyssa Joynt
Alyssa Joynt, Summer Student
As a 2020 and 2021 summer student in the Costain Lab, Alyssa had the opportunity to be involved in a number of projects, including the compilation of a Resource Guide for families that have children with rare genetic diseases. She also authored a manuscript now published in the Journal of Paediatrics & Child Health. Before joining the team, Alyssa was involved in writing a single patient case study currently under review, and is a co-author of the Nature Medicine paper Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma. Alyssa’s undergraduate studies were in Life Sciences and English Language and Literature at Queen’s University in Kingston, Ontario. She is now pursuing genetic counselling!
Wendy Wu
Wendy Wu, Summer Student
Wendy recently completed her third year in a dual degree in Biology and Mathematics at Queen’s University. She is passionate about technology and its emerging roles in the health-care sector and is heavily involved in organizations that aim to educate and provide resources to those interested in coding and Machine Learning. Her professional goals are to help reduce the gaps between data and research, and to pursue further education in Biomedical Engineering to integrate novel technologies such as AI/Machine Learning into current practices within the realm of genetics.
Meredith Curtis
Meredith Curtis, Laboratory Specialist
Meredith worked as a research coordinator at the Costain Lab while pursuing her Master’s in Medical Genomics at the University of Toronto. She is now a Laboratory Specialist within Paediatric Laboratory Medicine at the Hospital for Sick Children! Her interests lie in precision medicine, genome variant analysis, translational genomics, and scientific communication.
Collaborators
Contact Us
To contact the Costain Lab, fill out the form below!
Address
The Costain Lab
Genetics and Genome Biology Program
SickKids Research Institute
686 Bay Street
Toronto, ON, Canada
M5G 0A4